Article
A mutation in the nuclear speckle and splicing factor SRRM2 is associated with multisystem proteinopathy and causes dysregulation of synapse-associated genes.
RNA (New York, N.Y.) - 17 Aug 2026
Shi Qingyu, Lauder Chloe, Miller Jolie M, Wang Yong-Dong, Elsakrmy Noha, Volkanoska Sofija, Freibaum Brian D, Wuu Joanne, Benatar Michael, Peng Hui, Kim Hong Joo, Taylor J Paul, Cui Haissi
Abstract excerpt
Multisystem proteinopathy (MSP) is a pleiotropic degenerative disorder which affects the nervous system, muscles, and bones. The identification of risk factors and their molecular contribution to MSP expands our understanding of disease mechanisms. Here, we describe a family with dominantly inherited MSP, in which a mutation in the serine/arginine repetitive matrix protein 2 gene (SRRM2) that co-segregates with...
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